This table has been prepared by Dr Gisèle Bonne * - PhD and by Pr. François Rivier ** - MD, PhD
This website is developed and maintained by Dalil Hamroun** - PhD
* Sorbonne Université-Inserm, Centre of Research in Myology , Paris, France.
** Chu de Montpellier, Montpellier. France.
GT_NMD 2024 (updated 17/01/2024)
Gene symbol and protein | Gene Location | All allelic disease phenotypes - locus/disease symbols |
SQSTM1 Sequestosome 1       | 5q35.3 | * Welander-like distal myopathy - (4.15, 4.23, 12.83)* Amyotrophic lateral sclerosis and/or frontotemporal dementia - FTDALS3 (4.15, 4.23, 12.83)* Myopathy, distal, with rimmed vacuoles - DMRV (4.15, 4.23, 12.83) |